Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia

Sun Jun 23 07:39:35 2024

(2016) Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iranian Journal of Child Neurology. pp. 74-81. ISSN 1735-4668

Full text not available from this repository.

Official URL:


Objective Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia. Materials & Methods This cross-sectional study was part of a larger study conducted in patients with metabolic disorders during a period of 7 years from 2007 to 2014 in Isfahan Province, Iran. Our study covered a wide range of cases from newborn infants (one-week old) to adolescents (children up to the age of 17 years). This study evaluated patients' demographic information, history of disease, developmental and educational status, clinical and general conditions. Phone and in-person interviews were used to gather information. Results Out of 5100 patients screened in this study, 392 patients were affected by one of the different metabolic disorders and 167 individuals were diagnosed as organic acidemia. Propionic acidemia/methyl malonic acidemia (PA/MMA) was the most prevalent form of this metabolic disorder. The frequency of consanguinity was 84.7 in the group of patients. The mortality rate was 18.8 in patients with organic academia. Conclusion Each of the metabolic diseases, as a separate entity, is rare; nevertheless, in aggregate they have a somewhat high overall prevalence. These diseases result in mental and developmental disorders in the absence of quick diagnosis and initiation of treatment. Furthermore, more mutations should be identified in societies affected by consanguinity. Further research should also be conducted to determine worthwhile and more-efficient screening methods as well as long-term neurological prognosis.

Item Type: Article
Hashemipour, M.UNSPECIFIED
Mostofizadeh, N.UNSPECIFIED
Keywords: Organic acidemia Consanguinity Developmental delay Early detection inborn-errors metabolism disorders diagnosis province children china Neurosciences & Neurology
Page Range: pp. 74-81
Journal or Publication Title: Iranian Journal of Child Neurology
Journal Index: ISI
Volume: 10
Number: 2
ISSN: 1735-4668
Depositing User: مهندس مهدی شریفی

Actions (login required)

View Item View Item